MCID: TRC034
MIFTS: 26

Torch Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Torch Syndrome

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Torch Syndrome is related to pseudo-torch syndrome and aicardi-goutieres syndrome. An important gene associated with Torch Syndrome is OCLN (occludin), and among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Cell adhesion molecules (CAMs). The compounds uridine and pseudouridine have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and digestive/alimentary.

Aliases & Classifications for Torch Syndrome

About this section
Sources:
44NIH Rare Diseases, 63UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

torch syndrome 44 63


Related Diseases for Torch Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Pseudo-Torch Syndrome family:

torch syndrome

Diseases related to Torch Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pseudo-torch syndrome30.7OCLN, JAM3, DKC1, COL4A1
2aicardi-goutieres syndrome10.2
3intrauterine infections10.1
4aicardi-goutieres syndrome 1, dominant and recessive10.1
5dyskeratosis congenita autosomal dominant10.0TERC, DKC1
6dyskeratosis congenita10.0TERC, DKC1
7leukoplakia10.0TERC, DKC1
8fanconi's anemia10.0TERC, DKC1
9aplastic anemia10.0TERC, DKC1

Graphical network of diseases related to Torch Syndrome:



Diseases related to torch syndrome

Symptoms for Torch Syndrome

About this section

Drugs & Therapeutics for Torch Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Torch Syndrome

Drug clinical trials:

Search ClinicalTrials for Torch Syndrome

Search NIH Clinical Center for Torch Syndrome

Search CenterWatch for Torch Syndrome

Genetic Tests for Torch Syndrome

About this section

Anatomical Context for Torch Syndrome

About this section

Animal Models for Torch Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

Publications for Torch Syndrome

About this section
Sources:
53PubMed
See all sources

Articles related to Torch Syndrome:

idTitleAuthorsYear
1
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). (12833411)
2003
2
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. (11226724)
2001
3
TORCH syndrome. (7640200)
1995
4
TORCH syndrome and TORCH screening. (1972489)
1990
5
Charts: the TORCH syndrome revisited. (2922243)
1989
6
The TORCH syndrome: a clinical review. (2985660)
1985
7
The "torch syndrome. (177938)
1976

Variations for Torch Syndrome

About this section

Expression for genes affiliated with Torch Syndrome

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Torch Syndrome

Search GEO for disease gene expression data for Torch Syndrome.

Pathways for genes affiliated with Torch Syndrome

About this section
Sources:
51PathCards, 54QIAGEN, 31KEGG, 56Reactome, 61Thomson Reuters
See all sources

Pathways related to Torch Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2JAM3, OCLN
29.2JAM3, OCLN
39.2OCLN, JAM3
49.2JAM3, OCLN
59.1COL4A1, JAM3
6
Show member pathways
9.1COL4A1, JAM3
7
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
9.1COL4A1, JAM3
8
Show member pathways
8.7COL4A1, JAM3, OCLN

Compounds for genes affiliated with Torch Syndrome

About this section
Sources:
46Novoseek, 25HMDB, 12DrugBank
See all sources

Compounds related to Torch Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1uridine46 25 1211.3DKC1, TERC
2pseudouridine46 2510.2DKC1, TERC
3rrna469.0DKC1, TERC

GO Terms for genes affiliated with Torch Syndrome

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Torch Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tight junctionGO:0059239.2JAM3, OCLN

Biological processes related to Torch Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:0301989.1COL4A1, JAM3

Products for genes affiliated with Torch Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Torch Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet